PSACH
MCID: PSD012
MIFTS: 69

Pseudoachondroplasia (PSACH) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:42 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to multiple epiphyseal dysplasia and achondroplasia, and has symptoms including Arrayand Array. An important gene associated with Pseudoachondroplasia is COMP (cartilage oligomeric matrix protein), and among its related pathways are NCAM signaling for neurite out-growth and Protein digestion and absorption. The compounds pentosidine and dermatan have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and vision/eye.

Disease Ontology:9 An osteochondrodysplasia that has material basis in mutations in the comp gene which results in short limb dwarfism.

Genetics Home Reference:22 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:46 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

Wikipedia:64 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews summary for psach

Aliases & Classifications for Pseudoachondroplasia

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Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 46OMIM, 11DISEASES, 48Orphanet, 61UMLS, 44Novoseek, 23GTR, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Pseudoachondroplasia, Aliases & Descriptions:

Name: Pseudoachondroplasia 9 10 20 42 21 22 46 11 48 61
Pseudoachondroplastic Dysplasia 9 20 42 22 48 61
Psach 20 42 22 44
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 42 23 22
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 9 42 61
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 42 48
Pseudo-Achondroplastic Spondyloepiphyseal Dysplasia Syndrome 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
pseudoachondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology9 DOID:0080047
OMIM46 177170
MESH via Orphanet35 C535819
ICD10 via Orphanet27 Q77.8
UMLS via Orphanet62 C0410538

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia31.0ACAN, COMP, COL9A2, COL9A3, COL9A1, MATN3
2achondroplasia30.8ACAN, COMP, COL2A1
3dwarfism30.7ACAN, COMP, COL2A1
4diastrophic dysplasia30.4COMP, COL9A2, COL2A1, COL9A3, MATN3, SLC26A2
5short stature30.1COMP, COL2A1, MATN3, CD36
6osteogenesis imperfecta29.7DCN, ADAMTSL1, COL2A1, CD36
7achondrogenesis10.6SLC26A2
8relapsing polychondritis10.6MATN1
9spondyloepimetaphyseal dysplasia10.5COMP, MATN3
10metaphyseal dysplasia10.5COL2A1
11osteochondrodysplasia10.4COL2A1, ACAN
12lumbar disc disease10.4COL9A2, COL9A3
13campomelic dysplasia10.4COL9A2, COL2A1
14degenerative disc disease10.4COL9A3, COL9A2
15asphyxiating thoracic dystrophy10.4
16skeletal dysplasias10.4
17x-linked spondyloepiphyseal dysplasia tarda10.4COL2A1, ACAN
18clubfoot10.3SLC26A2, COL9A1
19stickler syndrome10.3COL9A2, COL2A1, COL9A1
20brachydactyly10.3COL2A1, COMP
21spondyloepiphyseal dysplasia congenita10.3
22arthritis10.3ACAN, COL2A1
23myopia 610.2DCN, COL2A1, FMOD
24skeletal dysplasia multi-gene panels10.2SLC26A2, COL2A1, COMP, ACAN
25osteochondritis dissecans10.2ACAN, COL9A2, COL9A3, COL9A1
26synovitis10.2ACAN, COMP, COL2A1, MATN1
27multiple epiphyseal dysplasia, dominant10.2COMP, COL9A2, COL9A3, COL9A1, MATN3
28thrombotic thrombocytopenic purpura, acquired10.2THBS1, ADAMTSL1
29cervicitis10.2
30otosclerosis10.2SLC26A2, CD36
31achondrogenesis type ii10.2COL2A1, CD36
32arthropathy10.2DCN, ACAN, COMP, COL2A1
33collagen disease10.1CD36, COL2A1
34localized scleroderma10.1CD36, DCN
35marfan syndrome10.1DCN, CD36
36asthma10.0
37cerebritis10.0
38pseudoachondroplastic dysplasia 210.0
39gingival overgrowth10.0CD36, DCN
40ehlers-danlos syndrome10.0DCN, COL2A1, CD36
41systemic scleroderma10.0DCN, COMP, CD36
42osteoporosis10.0COL2A1, CD36, SLC26A2
43otomycosis10.0CALM1, CALM3, CALM2
44proliferative vitreoretinopathy10.0THBS1, ADAMTSL1
45malignant hyperthermia10.0CALM1, CALM3, CALM2
46pertussis10.0CALM2, CALM3, CALM1
47toxic encephalopathy9.9CALM1, CALM3, CALM2
48cerebral malaria9.9CD36, ADAMTSL1, THBS1
49plasmodium falciparum malaria9.9CD36, ADAMTSL1, THBS1
50hypertrophic scars9.9CD36, DCN

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Symptoms:

48 (show all 24)
  • short limbs/micromelia/brachymelia
  • wrist/carpal anomalies
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • delayed bone age
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • lordosis
  • scoliosis
  • platyspondyly
  • short foot/brachydactyly of toes
  • abnormal gait
  • articular/joint pain/arthralgia
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • kyphosis
  • odontoid hypoplasia
  • genu valgum
  • genu varum

HPO human phenotypes related to Pseudoachondroplasia:

(show all 61)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 abnormality of the metacarpal bones hallmark (90%) HP:0001163
4 delayed skeletal maturation hallmark (90%) HP:0002750
5 micromelia hallmark (90%) HP:0002983
6 abnormality of the wrist hallmark (90%) HP:0003019
7 abnormality of the hip bone hallmark (90%) HP:0003272
8 short stature hallmark (90%) HP:0004322
9 abnormality of the epiphyses hallmark (90%) HP:0005930
10 platyspondyly typical (50%) HP:0000926
11 gait disturbance typical (50%) HP:0001288
12 limitation of joint mobility typical (50%) HP:0001376
13 joint hypermobility typical (50%) HP:0001382
14 short toe typical (50%) HP:0001831
15 scoliosis typical (50%) HP:0002650
16 osteoarthritis typical (50%) HP:0002758
17 arthralgia typical (50%) HP:0002829
18 hyperlordosis typical (50%) HP:0003307
19 kyphosis occasional (7.5%) HP:0002808
20 genu valgum occasional (7.5%) HP:0002857
21 genu varum occasional (7.5%) HP:0002970
22 hypoplasia of the odontoid process occasional (7.5%) HP:0003311
23 autosomal dominant inheritance HP:0000006
24 sensory neuropathy HP:0000763
25 platyspondyly HP:0000926
26 brachydactyly syndrome HP:0001156
27 limited elbow extension HP:0001377
28 degenerative joint disease HP:0001379
29 ligamentous laxity HP:0001380
30 joint laxity HP:0001388
31 carpal bone hypoplasia HP:0001498
32 cervical cord compression HP:0002341
33 waddling gait HP:0002515
34 scoliosis HP:0002650
35 delayed epiphyseal ossification HP:0002663
36 osteoarthritis HP:0002758
37 kyphosis HP:0002808
38 genu recurvatum HP:0002816
39 arthralgia HP:0002829
40 genu valgum HP:0002857
41 lumbar hyperlordosis HP:0002938
42 genu varum HP:0002970
43 metaphyseal widening HP:0003016
44 metaphyseal irregularity HP:0003025
45 short long bones HP:0003026
46 ulnar deviation of the wrist HP:0003049
47 limited hip extension HP:0003093
48 hypoplasia of the odontoid process HP:0003311
49 atlantoaxial dislocation HP:0003414
50 irregular carpal bones HP:0004236
51 beaking of vertebral bodies HP:0004568
52 fragmented, irregular epiphyses HP:0005063
53 disproportionate short-limb short stature HP:0008873
54 ulnar deviation of the hand HP:0009487
55 short distal phalanx of finger HP:0009882
56 short metacarpal HP:0010049
57 irregular epiphyses HP:0010582
58 small epiphyses HP:0010585
59 childhood onset short-limb short stature HP:0011405
60 spatulate ribs HP:0012307
61 fragmented epiphyses HP:0100168

Drugs & Therapeutics for Pseudoachondroplasia

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Drug clinical trials:

Search ClinicalTrials for Pseudoachondroplasia

Search NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplasia21 COMP
2 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome23

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

32
Bone

Animal Models for Pseudoachondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Pseudoachondroplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9SLC26A2, COL2A1, ACAN, DCN, HAPLN1
2MP:00053918.5THBS1, DCN, COL2A1, COL9A1, FMOD, CD36
3MP:00053698.3THBS1, DCN, ACAN, COMP, FMOD, CD36
4MP:00053717.5HAPLN1, THBS1, THBS3, ACAN, COMP, COL2A1
5MP:00053877.1ACAN, P4HB, DCN, THBS1, COMP, COL2A1
6MP:00053787.0DCN, THBS3, THBS1, HAPLN1, ACAN, COMP
7MP:00053906.4SLC26A2, HAPLN1, THBS1, THBS3, DCN, ACAN

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Pseudoachondroplasia: a case report. (24364233)
2013
2
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
3
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
4
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
5
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (21644213)
2011
6
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
7
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
8
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. (21042783)
2010
9
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
10
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
11
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
12
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. (17588960)
2007
13
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
14
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. (16514635)
2006
15
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. (16928687)
2006
16
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
17
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
18
Mesomelic dwarfism in pseudoachondroplasia. (15552564)
2004
19
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
20
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
21
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
22
A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. (11745002)
2002
23
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. (11746044)
2001
24
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
25
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
26
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
27
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. (9632164)
1998
28
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
29
Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. (9452063)
1998
30
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. (9749943)
1998
31
Mosaicism in pseudoachondroplasia. (9188668)
1997
32
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
33
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
34
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
35
Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia. (8074142)
1994
36
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. (7907311)
1994
37
Linkage of typical pseudoachondroplasia to chromosome 19. (8307577)
1993
38
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1442879)
1992
39
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. (1670752)
1991
40
Pseudoachondroplasia with immune deficiency. (3263611)
1988
41
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
42
Pseudoachondroplasia: biochemical and histochemical studies of cartilage. (6438109)
1984
43
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
44
The biochemical defect of pseudoachondroplasia. (7117284)
1982
45
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
46
Pseudoachondroplasia, a report of 13 cases. (871597)
1977
47
Pseudoachondroplasia. (1201340)
1975
48
Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease. (127160)
1975
49
Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia). (4440652)
1974
50
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. (4333078)
1972

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

63 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632
9COMPp.Asp472TyrVAR_007634
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641
14COMPp.Thr585ArgVAR_007642
15COMPp.Cys348ArgVAR_017102
16COMPp.Gly719AspVAR_017103
17COMPp.Pro234SerVAR_066790
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825
30COMPp.Gly719SerVAR_066828

Clinvar genetic disease variations for Pseudoachondroplasia:

7 (show all 20)
id Gene Name Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)single nucleotide variantPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> Gsingle nucleotide variantPathogenic
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)single nucleotide variantPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)single nucleotide variantPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)single nucleotide variantPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)single nucleotide variantPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)single nucleotide variantPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896859
17COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896859
18COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)single nucleotide variantPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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Expression patterns in normal tissues for genes affiliated with Pseudoachondroplasia

Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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Pathways related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 83)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8COL9A2, COL9A3, COL9A1
29.6COL9A1, COL9A3, COL9A2, COL2A1
39.5CALM3, CALM1, CALM2
4
Show member pathways
Ras signaling in the CD4+ TCR pathway37
9.5CALM1, CALM3, CALM2
59.5CALM1, CALM3, CALM2
69.5CALM1, CALM3, CALM2
79.5CALM1, CALM2, CALM3
89.5CALM1, CALM3, CALM2
99.5CALM3, CALM1, CALM2
109.5CALM1, CALM3, CALM2
119.5CALM1, CALM3, CALM2
129.5CALM3, CALM1, CALM2
13
Show member pathways
9.5CALM3, CALM1, CALM2
149.5CALM1, CALM3, CALM2
15
Show member pathways
9.5CALM1, CALM3, CALM2
16
Show member pathways
IFN-gamma pathway37
9.5CALM1, CALM2, CALM3
179.5CALM1, CALM3, CALM2
189.5CALM2, CALM1, CALM3
19
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors59
9.5CALM2, CALM1, CALM3
20
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.5CALM2, CALM3, CALM1
21
Show member pathways
9.5CALM2, CALM1, CALM3
22
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
9.5CALM2, CALM3, CALM1
23
Show member pathways
IL2 signaling events mediated by STAT537
9.5CALM2, CALM3, CALM1
24
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis37
inositol pyrophosphates biosynthesis37
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis37
9.5CALM2, CALM1, CALM3
25
Show member pathways
VEGFR1 specific signals37
9.5CALM3, CALM2, CALM1
269.5CALM3, CALM2, CALM1
279.5CALM2, CALM1, CALM3
28
Show member pathways
p38 MAPK signaling pathway37
9.5CALM2, CALM1, CALM3
299.5CALM2, CALM3, CALM1
30
Show member pathways
9.5CALM2, CALM3, CALM1
319.4THBS1, COMP, COL9A2, COL9A3, COL9A1
32
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.3CALM2, COL2A1, CALM1, CALM3
33
Show member pathways
Signaling Pathways in Glioblastoma37
9.2CALM3, CALM2, CALM1, THBS1
349.2THBS3, COMP, CD36, THBS1
359.2COMP, THBS3, THBS1, CD36
369.0CALM1, CALM2, CALM3, ACAN, COL2A1
37
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.0CD36, COL2A1, THBS1, COMP, THBS3
38
Show member pathways
8.9CD36, THBS1, CALM1, CALM3, CALM2
39
Show member pathways
8.9CALM3, CALM2, CD36, CALM1, THBS1
40
Show member pathways
8.8COL9A1, COL9A3, COL2A1, COL9A2, P4HB
41
Show member pathways
8.6COL9A2, CALM3, COL2A1, COL9A3, COL9A1, CALM1
428.4HAPLN1, FMOD, COL2A1, COMP, DCN, ACAN
43
Show member pathways
8.2SLC26A2, CALM1, ACAN, CALM3, CALM2, FMOD
448.2DCN, CALM1, CALM3, CALM2, FMOD, SLC26A2
45
Show member pathways
8.2THBS3, THBS1, COL9A2, COL9A3, COL9A1, CALM1
46
Show member pathways
8.2CALM3, CALM2, CALM1, COL9A1, COL9A3, THBS3
47
Show member pathways
8.0CALM2, COL9A2, THBS1, COL2A1, COL9A3, CALM1
487.3DCN, HAPLN1, ACAN, COL9A1, MATN1, COL9A3
49
Show member pathways
7.1CALM3, DCN, P4HB, ACAN, CALM1, CALM2
50
Show member pathways
6.0P4HB, COL9A1, COL9A3, COL2A1, HAPLN1, COL9A2

Compounds for genes affiliated with Pseudoachondroplasia

About this section
Sources:
44Novoseek, 25HMDB, 12DrugBank, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1pentosidine4410.2ACAN, COMP, COL2A1
2dermatan44 2511.2ACAN, DCN
3safranin o4410.2CD36, ACAN
4polyglycolic acid4410.1CD36, ACAN
5pyridinoline4410.1COMP, COL2A1, CD36
6chitosan4410.1ACAN, CD36
7aminosugars4410.0THBS1, ADAMTSL1
8jararhagin4410.0MATN1, CD36
9sulfatide449.9THBS1, ADAMTSL1
10hydroxyapatite449.9THBS1, DCN, CD36
11epsilon aminocaproic acid449.8ADAMTSL1, THBS1
12chondroitin44 2510.8DCN, ACAN, FMOD
13grgds449.7CD36, ADAMTSL1, THBS1
14neurocan449.7HAPLN1, DCN, ACAN
15fucoidan449.7CD36, ADAMTSL1, THBS1
16titanium449.7DCN, ADAMTSL1, CD36
17dextran sulfate449.7CD36, ADAMTSL1, THBS1
18vitamin d449.5CD36, COL2A1, COMP, ACAN, THBS1
19dermatan sulfate449.5DCN, COMP, FMOD, CD36
20heparan sulfate44 2510.5ACAN, ADAMTSL1, DCN, THBS1
21glucosamine44 25 1211.5THBS1, ADAMTSL1, ACAN, CD36
22oligonucleotide449.2THBS1, DCN, ADAMTSL1, COMP, COL2A1
23sulfate44 2510.2DCN, ADAMTSL1, ACAN, COMP, COL2A1, SLC26A2
24cyanogen bromide449.2CD36, P4HB
25hydroxyproline44 25 1211.2CD36, COL2A1, P4HB, DCN
26alginate449.1DCN, ACAN, COMP, COL2A1, MATN1, CD36
27ascorbic acid44 2510.1CD36, COL2A1, ACAN, P4HB
28guanidine hydrochloride449.1P4HB, DCN, HAPLN1
29tgf beta1449.0THBS1, DCN, ADAMTSL1, ACAN, COMP, CD36
30methionine449.0THBS1, P4HB, ADAMTSL1, COMP
31aspartate448.9ADAMTSL1, COMP, COL2A1, DCN
32leucine448.9DCN, ADAMTSL1, ACAN, FMOD
33polysaccharide448.9ADAMTSL1, P4HB, DCN, THBS1
34agarose448.9THBS1, DCN, P4HB, ACAN, COMP, COL2A1
35lysine448.8DCN, P4HB, ADAMTSL1, COL2A1
36creatinine448.8DCN, P4HB, COMP, CD36
37dexamethasone44 50 29 1211.7THBS1, DCN, ADAMTSL1, ACAN, COL2A1, CD36
38cycloheximide448.6THBS1, P4HB, ADAMTSL1, COL2A1, CD36
39proline448.5FMOD, COMP, ACAN, ADAMTSL1, P4HB
40nitric oxide44 25 1210.5THBS1, DCN, P4HB, ACAN, COL2A1, MATN1
41oxygen44 259.5THBS1, DCN, P4HB, ADAMTSL1, COL2A1
42estrogen448.3CD36, ADAMTSL1, P4HB, DCN, THBS1
43keratan sulfate448.2HAPLN1, CD36, FMOD, COMP, ACAN, ADAMTSL1
44cysteine448.0THBS1, DCN, P4HB, ADAMTSL1, COMP, COL2A1
45chondroitin sulfate44 258.9CD36, FMOD, COMP, ACAN, ADAMTSL1, DCN
46hyaluronic acid44 258.9HAPLN1, THBS1, DCN, ADAMTSL1, ACAN, COMP
47retinoic acid44 258.5THBS1, DCN, P4HB, ADAMTSL1, ACAN, COMP
48glycosaminoglycan447.2CD36, FMOD, MATN1, COL2A1, COMP, ACAN
49calcium44 50 25 1210.1THBS1, THBS3, P4HB, ADAMTSL1, COMP, COL2A1
50procollagen447.0THBS1, DCN, P4HB, ADAMTSL1, ACAN, COMP

GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:0055949.8COL9A2, COL9A3, COL9A1
2Golgi lumenGO:0057969.4FMOD, ACAN, DCN
3lysosomal lumenGO:0432029.1DCN, ACAN, FMOD
4endoplasmic reticulum lumenGO:0057888.7COL9A1, COL9A3, COL2A1, COL9A2, P4HB
5extracellular matrixGO:0310128.4HAPLN1, THBS1, DCN, ACAN, COMP, FMOD
6proteinaceous extracellular matrixGO:0055787.8HAPLN1, ADAMTSL1, ACAN, COMP, MATN3, MATN1
7extracellular regionGO:0055765.4FMOD, HAPLN1, THBS1, THBS3, DCN, P4HB

Biological processes related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of blood coagulationGO:0301949.9CD36, THBS1
2organ morphogenesisGO:0098879.9DCN, COMP, COL9A1
3tissue homeostasisGO:0018949.9COL9A1, COL2A1
4collagen catabolic processGO:0305749.8COL9A2, COL2A1, COL9A3, COL9A1
5keratan sulfate catabolic processGO:0423409.8FMOD, ACAN
6platelet degranulationGO:0025769.7CD36, CALM3, THBS1
7keratan sulfate biosynthetic processGO:0181469.7FMOD, ACAN
8growth plate cartilage developmentGO:0034179.7THBS1, THBS3, COMP, COL9A1
9skeletal system developmentGO:0015019.7ACAN, COMP, COL9A2, COL2A1, MATN3
10axon guidanceGO:0074119.6COL9A2, COL2A1, COL9A3, COL9A1
11positive regulation of reactive oxygen species metabolic processGO:20003799.5CD36, THBS1
12glycosaminoglycan metabolic processGO:0302039.5SLC26A2, FMOD, ACAN, DCN
13extracellular matrix disassemblyGO:0226179.3DCN, ACAN, COL9A2, COL2A1, COL9A3, COL9A1
14carbohydrate metabolic processGO:0059759.2DCN, ACAN, CALM3, FMOD, SLC26A2
15cell adhesionGO:0071559.0HAPLN1, THBS1, ACAN, COMP, CD36
16small molecule metabolic processGO:0442817.9DCN, P4HB, ACAN, CALM3, FMOD, CD36
17extracellular matrix organizationGO:0301986.3FMOD, HAPLN1, THBS1, DCN, P4HB, ACAN

Molecular functions related to Pseudoachondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:0504319.8THBS1, CD36
2low-density lipoprotein particle bindingGO:0301699.7THBS1, CD36
3extracellular matrix structural constituent conferring tensile strengthGO:0300209.7COL9A1, COL9A3, COL2A1, COL9A2
4hyaluronic acid bindingGO:0055409.6ACAN, HAPLN1
5extracellular matrix structural constituentGO:0052019.5ACAN, COMP, MATN3, MATN1
6heparin bindingGO:0082019.3COMP, THBS3, THBS1

Products for genes affiliated with Pseudoachondroplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pseudoachondroplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet